If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
284
|
364
|
36
|
0 |
0 |
684
|
Gene and significance breakdown #
Total genes and gene combinations: 374
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
CAPN3
|
16
|
12
|
0 |
28
|
DMD
|
15
|
7
|
0 |
22
|
DYSF
|
8
|
7
|
0 |
15
|
LAMA2
|
5
|
7
|
0 |
12
|
NF1
|
8
|
1
|
0 |
9
|
MYO7A
|
4
|
4
|
0 |
8
|
RYR1
|
3
|
5
|
0 |
8
|
SGCA
|
4
|
4
|
0 |
8
|
ATM, C11orf65
|
5
|
2
|
0 |
7
|
LMNA
|
2
|
4
|
1
|
7
|
SPG11
|
5
|
2
|
0 |
7
|
TYR
|
4
|
3
|
0 |
7
|
ATM
|
5
|
1
|
0 |
6
|
CEP290
|
6
|
0 |
0 |
6
|
COLQ
|
2
|
4
|
0 |
6
|
GMPPB
|
2
|
4
|
0 |
6
|
MYO15A
|
2
|
4
|
0 |
6
|
USH2A
|
5
|
1
|
0 |
6
|
C17orf107, CHRNE
|
2
|
3
|
0 |
5
|
COL6A2
|
3
|
1
|
1
|
5
|
GDAP1
|
1
|
3
|
1
|
5
|
PLA2G6
|
2
|
3
|
0 |
5
|
TGM1
|
2
|
3
|
0 |
5
|
ASPM
|
4
|
0 |
0 |
4
|
BBS12
|
0 |
3
|
1
|
4
|
CLCN1
|
1
|
3
|
0 |
4
|
COL7A1
|
2
|
2
|
0 |
4
|
PLEC
|
0 |
4
|
0 |
4
|
POLG, POLGARF
|
4
|
0 |
0 |
4
|
SACS
|
1
|
3
|
0 |
4
|
ABCA4
|
1
|
2
|
0 |
3
|
ACADVL
|
0 |
3
|
0 |
3
|
ANO5
|
1
|
2
|
0 |
3
|
CDC14A
|
1
|
2
|
0 |
3
|
CDH23
|
0 |
3
|
0 |
3
|
CLN6
|
1
|
2
|
0 |
3
|
COL1A1
|
1
|
2
|
0 |
3
|
COL6A1
|
3
|
0 |
0 |
3
|
DOK7
|
1
|
1
|
1
|
3
|
ETFDH
|
1
|
2
|
0 |
3
|
FHL1
|
0 |
2
|
1
|
3
|
FKRP
|
0 |
3
|
0 |
3
|
GJB1
|
2
|
1
|
0 |
3
|
GJB2
|
3
|
0 |
0 |
3
|
GNPTAB
|
2
|
1
|
0 |
3
|
IGHMBP2
|
2
|
1
|
0 |
3
|
KCNQ1
|
3
|
0 |
0 |
3
|
MECP2
|
3
|
0 |
0 |
3
|
MMUT
|
2
|
1
|
0 |
3
|
NALCN
|
1
|
2
|
0 |
3
|
PKHD1
|
3
|
0 |
0 |
3
|
PNKP
|
2
|
1
|
0 |
3
|
SH3TC2
|
0 |
3
|
0 |
3
|
SLC26A4
|
1
|
2
|
0 |
3
|
SRD5A3
|
2
|
1
|
0 |
3
|
SYNE1
|
1
|
2
|
0 |
3
|
TCAP
|
1
|
2
|
0 |
3
|
TPP1
|
3
|
0 |
0 |
3
|
TRAPPC9
|
2
|
1
|
0 |
3
|
VPS13B
|
1
|
2
|
0 |
3
|
WWOX
|
0 |
3
|
0 |
3
|
ZFYVE26
|
0 |
3
|
0 |
3
|
ALS2
|
0 |
2
|
0 |
2
|
AP4E1
|
0 |
1
|
1
|
2
|
ASAH1
|
0 |
2
|
0 |
2
|
BAG3
|
1
|
1
|
0 |
2
|
BBS9
|
1
|
1
|
0 |
2
|
BSCL2, HNRNPUL2-BSCL2
|
1
|
1
|
0 |
2
|
CACNA1A
|
1
|
0 |
1
|
2
|
CACNA1S
|
1
|
1
|
0 |
2
|
CDK10
|
1
|
1
|
0 |
2
|
CERS3
|
0 |
2
|
0 |
2
|
CHRNE
|
0 |
2
|
0 |
2
|
COL1A2
|
0 |
2
|
0 |
2
|
COL6A3
|
0 |
2
|
0 |
2
|
DNM2
|
1
|
0 |
1
|
2
|
DYNC1H1
|
1
|
1
|
0 |
2
|
EIF2B2
|
0 |
2
|
0 |
2
|
ERCC8
|
0 |
2
|
0 |
2
|
FANCA
|
1
|
1
|
0 |
2
|
GALNS
|
0 |
2
|
0 |
2
|
GCDH
|
1
|
1
|
0 |
2
|
GJC2
|
0 |
2
|
0 |
2
|
GNAO1
|
2
|
0 |
0 |
2
|
HINT1
|
1
|
1
|
0 |
2
|
KCNJ10
|
0 |
1
|
1
|
2
|
LAMB3
|
1
|
1
|
0 |
2
|
MFN2
|
1
|
1
|
0 |
2
|
MME
|
0 |
2
|
0 |
2
|
MPZ
|
0 |
2
|
0 |
2
|
NEFL
|
1
|
1
|
0 |
2
|
NGLY1
|
0 |
1
|
1
|
2
|
NPC1
|
1
|
1
|
0 |
2
|
OTOF
|
1
|
1
|
0 |
2
|
PIEZO2
|
1
|
0 |
1
|
2
|
POMT1
|
2
|
0 |
0 |
2
|
PRX
|
1
|
1
|
0 |
2
|
PTEN
|
1
|
1
|
0 |
2
|
PTPN11
|
1
|
1
|
0 |
2
|
PTPRQ
|
0 |
2
|
0 |
2
|
RPE65
|
1
|
1
|
0 |
2
|
SELENON
|
1
|
1
|
0 |
2
|
SGCB
|
1
|
1
|
0 |
2
|
SGCD
|
1
|
1
|
0 |
2
|
SLC12A6
|
0 |
1
|
1
|
2
|
SMCHD1
|
2
|
0 |
0 |
2
|
SOD1
|
1
|
1
|
0 |
2
|
TBC1D24
|
0 |
2
|
0 |
2
|
TBCK
|
2
|
0 |
0 |
2
|
TMPRSS3
|
0 |
2
|
0 |
2
|
TTN
|
0 |
1
|
1
|
2
|
AAAS
|
0 |
1
|
0 |
1
|
ABCA12
|
0 |
1
|
0 |
1
|
ABCD1
|
0 |
1
|
0 |
1
|
ACE
|
0 |
1
|
0 |
1
|
ACTA1
|
0 |
1
|
0 |
1
|
ADA
|
0 |
1
|
0 |
1
|
ADGRG1
|
0 |
1
|
0 |
1
|
ADGRV1
|
0 |
1
|
0 |
1
|
AGL
|
1
|
0 |
0 |
1
|
AGRN
|
1
|
0 |
0 |
1
|
AGXT
|
0 |
1
|
0 |
1
|
AIFM1, RAB33A
|
0 |
1
|
0 |
1
|
AIPL1
|
0 |
1
|
0 |
1
|
ALDH18A1
|
0 |
1
|
0 |
1
|
ALDH7A1
|
0 |
1
|
0 |
1
|
ALMS1
|
1
|
0 |
0 |
1
|
AMPD2
|
1
|
0 |
0 |
1
|
ANK3
|
0 |
1
|
0 |
1
|
ANKRD11
|
0 |
1
|
0 |
1
|
ANO10
|
1
|
0 |
0 |
1
|
AP3B1
|
0 |
0 |
1
|
1
|
AP4B1
|
1
|
0 |
0 |
1
|
AP4M1
|
1
|
0 |
0 |
1
|
ARHGEF10
|
0 |
1
|
0 |
1
|
ARID1B
|
0 |
0 |
1
|
1
|
ARL6
|
0 |
1
|
0 |
1
|
ARSA
|
1
|
0 |
0 |
1
|
ARV1
|
0 |
1
|
0 |
1
|
ASPA, SPATA22
|
0 |
1
|
0 |
1
|
ATL1
|
0 |
1
|
0 |
1
|
ATP2B3
|
0 |
0 |
1
|
1
|
ATP6V1B1
|
0 |
1
|
0 |
1
|
ATP7B
|
0 |
1
|
0 |
1
|
ATRX
|
0 |
1
|
0 |
1
|
BBS1, ZDHHC24
|
0 |
1
|
0 |
1
|
BBS2
|
0 |
1
|
0 |
1
|
BBS7
|
1
|
0 |
0 |
1
|
BCKDHB
|
1
|
0 |
0 |
1
|
BMP1, LOC129999976
|
0 |
1
|
0 |
1
|
C10orf105, CDH23
|
0 |
1
|
0 |
1
|
C19orf12
|
0 |
1
|
0 |
1
|
CAMK2B
|
1
|
0 |
0 |
1
|
CANT1
|
0 |
1
|
0 |
1
|
CASK
|
0 |
1
|
0 |
1
|
CAV3, OXTR
|
0 |
1
|
0 |
1
|
CBS
|
0 |
1
|
0 |
1
|
CC2D2A
|
0 |
1
|
0 |
1
|
CDKL5
|
0 |
1
|
0 |
1
|
CEACAM16
|
0 |
1
|
0 |
1
|
CEP290, RLIG1
|
0 |
1
|
0 |
1
|
CEP55
|
0 |
1
|
0 |
1
|
CERT1, POLK
|
0 |
0 |
1
|
1
|
CFAP96, UFSP2
|
0 |
1
|
0 |
1
|
CFTR
|
1
|
0 |
0 |
1
|
CHAT
|
0 |
1
|
0 |
1
|
CHMP1A
|
0 |
0 |
1
|
1
|
CHRNE, LOC130060041
|
1
|
0 |
0 |
1
|
CHRNG
|
1
|
0 |
0 |
1
|
CLCN7
|
0 |
1
|
0 |
1
|
CLN5
|
1
|
0 |
0 |
1
|
CNGA3
|
1
|
0 |
0 |
1
|
COL11A2
|
1
|
0 |
0 |
1
|
COL17A1
|
0 |
1
|
0 |
1
|
COL2A1
|
0 |
1
|
0 |
1
|
COMP
|
1
|
0 |
0 |
1
|
COQ4
|
0 |
1
|
0 |
1
|
COQ8A
|
0 |
1
|
0 |
1
|
CPT2
|
1
|
0 |
0 |
1
|
CRB1
|
0 |
1
|
0 |
1
|
CRBN
|
0 |
1
|
0 |
1
|
CREBBP
|
1
|
0 |
0 |
1
|
CRYAA
|
1
|
0 |
0 |
1
|
CTNNB1
|
0 |
1
|
0 |
1
|
CTSA
|
0 |
1
|
0 |
1
|
CTSK
|
0 |
1
|
0 |
1
|
CYB5R3
|
0 |
0 |
1
|
1
|
CYP2U1
|
0 |
1
|
0 |
1
|
DCX
|
1
|
0 |
0 |
1
|
DES
|
0 |
1
|
0 |
1
|
DNA2
|
0 |
0 |
1
|
1
|
DNAJB6
|
1
|
0 |
0 |
1
|
DNMT3A
|
0 |
1
|
0 |
1
|
DPAGT1
|
0 |
1
|
0 |
1
|
DSG1
|
0 |
1
|
0 |
1
|
DYM
|
0 |
1
|
0 |
1
|
EPM2A
|
0 |
1
|
0 |
1
|
ERCC4
|
0 |
1
|
0 |
1
|
ERLIN2
|
0 |
1
|
0 |
1
|
ESPN
|
0 |
0 |
1
|
1
|
ETHE1
|
0 |
1
|
0 |
1
|
EXOSC2
|
0 |
0 |
1
|
1
|
EXOSC3
|
1
|
0 |
0 |
1
|
EXT1
|
0 |
1
|
0 |
1
|
EYS
|
1
|
0 |
0 |
1
|
FANCG
|
0 |
1
|
0 |
1
|
FBLN5
|
0 |
0 |
1
|
1
|
FBN1
|
0 |
1
|
0 |
1
|
FBN1, LOC126862124
|
0 |
1
|
0 |
1
|
FBN2
|
0 |
0 |
1
|
1
|
FERMT1
|
0 |
1
|
0 |
1
|
FGD4
|
0 |
0 |
1
|
1
|
FGFR3
|
1
|
0 |
0 |
1
|
FKBP10
|
1
|
0 |
0 |
1
|
FLNB
|
0 |
1
|
0 |
1
|
FLNC
|
1
|
0 |
0 |
1
|
FOXG1
|
1
|
0 |
0 |
1
|
FREM1
|
0 |
1
|
0 |
1
|
FUCA1
|
1
|
0 |
0 |
1
|
FYCO1
|
0 |
1
|
0 |
1
|
GAA
|
0 |
1
|
0 |
1
|
GALC
|
1
|
0 |
0 |
1
|
GAMT
|
1
|
0 |
0 |
1
|
GAN
|
0 |
1
|
0 |
1
|
GAREM2, HADHA
|
0 |
1
|
0 |
1
|
GCH1
|
0 |
1
|
0 |
1
|
GFPT1
|
1
|
0 |
0 |
1
|
GH-LCR, SCN4A
|
0 |
1
|
0 |
1
|
GIPC3
|
0 |
0 |
1
|
1
|
GLI3
|
1
|
0 |
0 |
1
|
GNB5
|
0 |
1
|
0 |
1
|
GPHN, RDH12, ZFYVE26
|
0 |
1
|
0 |
1
|
HACE1
|
0 |
1
|
0 |
1
|
HADHA
|
0 |
1
|
0 |
1
|
HARS1
|
0 |
1
|
0 |
1
|
HECW2
|
0 |
1
|
0 |
1
|
HJV
|
0 |
1
|
0 |
1
|
HPS6
|
0 |
1
|
0 |
1
|
HSD17B4
|
0 |
1
|
0 |
1
|
ITGA7
|
0 |
1
|
0 |
1
|
ITGB4
|
0 |
1
|
0 |
1
|
ITPR1
|
0 |
1
|
0 |
1
|
KAT6B
|
1
|
0 |
0 |
1
|
KIF1C, LOC126862473
|
1
|
0 |
0 |
1
|
KIF5A
|
0 |
0 |
1
|
1
|
KISS1R
|
0 |
1
|
0 |
1
|
KMT2D
|
1
|
0 |
0 |
1
|
KRT14
|
1
|
0 |
0 |
1
|
KRT17
|
1
|
0 |
0 |
1
|
L2HGDH
|
0 |
1
|
0 |
1
|
LAMC2
|
0 |
1
|
0 |
1
|
LHFPL5
|
0 |
1
|
0 |
1
|
LOC111811965, MIR4733HG, NF1
|
1
|
0 |
0 |
1
|
LOC126861615, PAH
|
1
|
0 |
0 |
1
|
LOC126861897, MHRT, MYH7
|
0 |
1
|
0 |
1
|
LOC129992585, SGCB
|
0 |
1
|
0 |
1
|
LOC130005097, PNPLA2
|
0 |
1
|
0 |
1
|
LOC130059891, SERPINF1
|
0 |
1
|
0 |
1
|
LRAT
|
1
|
0 |
0 |
1
|
LRP4
|
0 |
1
|
0 |
1
|
MARVELD2
|
1
|
0 |
0 |
1
|
MCOLN1
|
0 |
1
|
0 |
1
|
MCPH1
|
0 |
1
|
0 |
1
|
MFSD8
|
0 |
1
|
0 |
1
|
MICU1
|
1
|
0 |
0 |
1
|
MITF
|
1
|
0 |
0 |
1
|
MKKS
|
0 |
1
|
0 |
1
|
MLC1
|
1
|
0 |
0 |
1
|
MMACHC
|
1
|
0 |
0 |
1
|
MOCS2
|
0 |
1
|
0 |
1
|
MTHFR
|
1
|
0 |
0 |
1
|
MYBPC1
|
0 |
1
|
0 |
1
|
MYH14
|
0 |
0 |
1
|
1
|
MYH2, MYHAS
|
0 |
0 |
1
|
1
|
MYO6
|
0 |
1
|
0 |
1
|
NAGLU
|
0 |
1
|
0 |
1
|
NBN
|
0 |
1
|
0 |
1
|
NCSTN
|
1
|
0 |
0 |
1
|
NEB, RIF1
|
1
|
0 |
0 |
1
|
NTNG2
|
0 |
1
|
0 |
1
|
OPHN1
|
0 |
1
|
0 |
1
|
PAH
|
1
|
0 |
0 |
1
|
PCCB
|
1
|
0 |
0 |
1
|
PCDH15
|
0 |
1
|
0 |
1
|
PDE6B
|
0 |
1
|
0 |
1
|
PDE6C
|
0 |
1
|
0 |
1
|
PDHA1
|
1
|
0 |
0 |
1
|
PDZD7
|
0 |
1
|
0 |
1
|
PEX1
|
1
|
0 |
0 |
1
|
PEX2
|
0 |
1
|
0 |
1
|
PEX5
|
0 |
1
|
0 |
1
|
PEX7
|
0 |
1
|
0 |
1
|
PGM1
|
0 |
1
|
0 |
1
|
PIGG
|
0 |
1
|
0 |
1
|
PIGN
|
0 |
0 |
1
|
1
|
PJVK
|
1
|
0 |
0 |
1
|
PKDCC
|
0 |
1
|
0 |
1
|
PMP2
|
0 |
1
|
0 |
1
|
PNPLA1
|
0 |
1
|
0 |
1
|
PNPLA2
|
0 |
1
|
0 |
1
|
PNPLA8
|
0 |
1
|
0 |
1
|
POMGNT1
|
1
|
0 |
0 |
1
|
POMGNT1, TSPAN1
|
0 |
1
|
0 |
1
|
POU3F4
|
0 |
1
|
0 |
1
|
PPOX
|
0 |
1
|
0 |
1
|
PPT1
|
0 |
1
|
0 |
1
|
PRG4
|
0 |
1
|
0 |
1
|
PSEN1
|
1
|
0 |
0 |
1
|
PURA
|
0 |
1
|
0 |
1
|
PYCR1
|
1
|
0 |
0 |
1
|
PYGM
|
0 |
1
|
0 |
1
|
RAB3GAP2
|
0 |
1
|
0 |
1
|
RAG2
|
0 |
1
|
0 |
1
|
RAPSN
|
0 |
1
|
0 |
1
|
RBM10
|
0 |
1
|
0 |
1
|
RD3
|
1
|
0 |
0 |
1
|
REEP1
|
0 |
0 |
1
|
1
|
RLBP1
|
0 |
1
|
0 |
1
|
RMND1
|
0 |
1
|
0 |
1
|
RNASEH2B
|
1
|
0 |
0 |
1
|
RNASEH2C
|
1
|
0 |
0 |
1
|
RPGRIP1L
|
1
|
0 |
0 |
1
|
RPS24
|
0 |
1
|
0 |
1
|
RTEL1, RTEL1-TNFRSF6B
|
1
|
0 |
0 |
1
|
SERPINI1
|
0 |
1
|
0 |
1
|
SETBP1
|
1
|
0 |
0 |
1
|
SETX
|
1
|
0 |
0 |
1
|
SGCG
|
1
|
0 |
0 |
1
|
SGSH
|
1
|
0 |
0 |
1
|
SLC12A1
|
1
|
0 |
0 |
1
|
SLC19A2
|
1
|
0 |
0 |
1
|
SLC22A5
|
0 |
1
|
0 |
1
|
SLC29A3
|
0 |
1
|
0 |
1
|
SMC1A
|
0 |
1
|
0 |
1
|
SMPD1
|
0 |
1
|
0 |
1
|
SORD
|
0 |
1
|
0 |
1
|
SPAST
|
1
|
0 |
0 |
1
|
SPG7
|
0 |
0 |
1
|
1
|
SPTA1
|
0 |
1
|
0 |
1
|
SRCAP
|
0 |
1
|
0 |
1
|
SRD5A2
|
0 |
1
|
0 |
1
|
SYT2
|
0 |
0 |
1
|
1
|
SZT2
|
0 |
0 |
1
|
1
|
TANGO2
|
1
|
0 |
0 |
1
|
TBCEL-TECTA, TECTA
|
0 |
1
|
0 |
1
|
TBX4
|
1
|
0 |
0 |
1
|
TCIRG1
|
0 |
1
|
0 |
1
|
TK2
|
0 |
1
|
0 |
1
|
TMC1
|
1
|
0 |
0 |
1
|
TMEM216
|
0 |
1
|
0 |
1
|
TMEM67
|
1
|
0 |
0 |
1
|
TMEM94
|
0 |
1
|
0 |
1
|
TMIE
|
0 |
1
|
0 |
1
|
TMPRSS6
|
0 |
1
|
0 |
1
|
TMX2, TMX2-CTNND1
|
0 |
1
|
0 |
1
|
TPRN
|
0 |
1
|
0 |
1
|
TRMT10A
|
0 |
1
|
0 |
1
|
TSC2
|
1
|
0 |
0 |
1
|
TSEN54
|
1
|
0 |
0 |
1
|
TTPA
|
0 |
1
|
0 |
1
|
TUBA1A
|
0 |
1
|
0 |
1
|
TUBB4A
|
1
|
0 |
0 |
1
|
TULP1
|
1
|
0 |
0 |
1
|
TUSC3
|
0 |
1
|
0 |
1
|
VLDLR
|
1
|
0 |
0 |
1
|
VPS13A
|
0 |
1
|
0 |
1
|
VRK1
|
1
|
0 |
0 |
1
|
VWF
|
1
|
0 |
0 |
1
|
WAS
|
0 |
1
|
0 |
1
|
WDR62
|
1
|
0 |
0 |
1
|
WDR73
|
0 |
1
|
0 |
1
|
ZEB2
|
1
|
0 |
0 |
1
|
ZFR
|
0 |
0 |
1
|
1
|
ZIC2
|
1
|
0 |
0 |
1
|
Condition and significance breakdown #
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.